Table 3 of Abidi, Mol Vis 2011; 17:3541-3547.
Population |
Method(s) used |
No. of patients |
Phenotype |
Global ratea |
% in F or SBb |
% in SUc |
% NS/FS mutations |
% Splicing mutations |
Reference |
---|---|---|---|---|---|---|---|---|---|
Japan | SSCP, DHPLC, FISH | 51 | 11 FB 4 FU 16 SB 20 SU | 39 | 61 | 5 | 70 | 15 | [23] |
Germany | SSCP, HDA, sequencing | 71 | B or F | 72 | 72 | ND | 88 | 11 | [24] |
Spain, Colombia and Cuba | Sequencing, microsatellite markers | 107 | 11 FB 4 FU 49 SB 43 SU | 50 | 67 | 20.9 | 58 | 23 | [25] |
China | SSCP | 42 | 14 SB 28 SU | 19 | 50 | 3.6 | 63 | 37 | [26] |
Italy | SSCP, sequencing, real-time PCR | 35 | 7 FB 2FU 13 SB 13 SU | 37 | 59 | 0 | 62 | 31 | [27] |
New Zeland | Sequencing MLPA, FISH, bisulphite method | 20 | 1FB 7SB 12 SU | 50 | 100 | 17 | 60 | 30 | [17] |
Europe, North America, Asia | QM-PCR, Sequencing, AS-PCR | 1020 | 421 B 27 FU 572 SU | 49 | 94 | 14.6 | ND | ND | [19] |
Switzerland | DHPLC, Sequencing, STR markers | 65 | 7 F 30 SB 28 SU | 45 | 70 | 10.7 | 68 | 27 | [8] |
India | QM-PCR RFLP, FG, Sequencing | 74 | 53 B 4FU 17 SU | 66 | 84 | 6 | 28.5 | 12.3 | [16] |
France | DHPLC, QMPSF | 192 | 102 B or F 90 SU | 46 | 81.5 | 5.5 | 51 | 26 | [14] |
Mexico | SSCP-Sequencing | 48 | 21 B 27 U | 19 | ND | ND | 31 | ND | [28] |
Argentina | Sequencing | 21 | 6 FB 7 SB 8 SU | 24 | 80 | 12.5 | 80 | 0 | [29] |
North America | Sequencing, RT, QSBA, LOH | 180 | 85 B 10 FU 85 SU | 50 | 88 | 7 | ND | ND | [30] |
Spain | Sequencing, RT–PCR | 43 | 43 SB or F | 67 | 67 | ND | 69 | 31 | [31] |
Morocco | Sequencing | 41 | 1FB 1 FU 23 SB 16 SU | 24 | 40 | 0 | 90 | 10 | This study |